BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

306 related articles for article (PubMed ID: 29631605)

  • 1. Fabry disease in the Spanish population: observational study with detection of 77 patients.
    Vieitez I; Souto-Rodriguez O; Fernandez-Mosquera L; San Millan B; Teijeira S; Fernandez-Martin J; Martinez-Sanchez F; Aldamiz-Echevarria LJ; Lopez-Rodriguez M; Navarro C; Ortolano S
    Orphanet J Rare Dis; 2018 Apr; 13(1):52. PubMed ID: 29631605
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Newborn screening for Fabry disease in the north-west of Spain.
    Colon C; Ortolano S; Melcon-Crespo C; Alvarez JV; Lopez-Suarez OE; Couce ML; Fernández-Lorenzo JR
    Eur J Pediatr; 2017 Aug; 176(8):1075-1081. PubMed ID: 28646478
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.
    Choi JH; Lee BH; Heo SH; Kim GH; Kim YM; Kim DS; Ko JM; Sohn YB; Hong YH; Lee DH; Kook H; Lim HH; Kim KH; Kim WS; Hong GR; Kim SH; Park SH; Kim CD; Kim SM; Seo JS; Yoo HW
    Medicine (Baltimore); 2017 Jul; 96(29):e7387. PubMed ID: 28723748
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Screening Test of Fabry Disease in Patients with Renal Replacement Therapy in the City of Modena].
    Alfano G; Ganda N; Cerami C; Mori G; Fontana F; Cappelli G
    G Ital Nefrol; 2018 Mar; 35(2):. PubMed ID: 29582965
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young.
    De Brabander I; Yperzeele L; Ceuterick-De Groote C; Brouns R; Baker R; Belachew S; Delbecq J; De Keulenaer G; Dethy S; Eyskens F; Fumal A; Hemelsoet D; Hughes D; Jeangette S; Nuytten D; Redondo P; Sadzot B; Sindic C; Sheorajpanday R; Thijs V; Van Broeckhoven C; De Deyn PP
    Clin Neurol Neurosurg; 2013 Jul; 115(7):1088-93. PubMed ID: 23219219
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.
    Varela P; Mastroianni Kirsztajn G; Motta FL; Martin RP; Turaça LT; Ferrer HLF; Gomes CP; Nicolicht P; Mara Marins M; Pessoa JG; Braga MC; D'Almeida V; Martins AM; Pesquero JB
    Orphanet J Rare Dis; 2020 Jan; 15(1):30. PubMed ID: 31996269
    [TBL] [Abstract][Full Text] [Related]  

  • 7. GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease?
    Chaves-Markman ÂV; Markman M; Calado EB; Pires RF; Santos-Veloso MAO; Pereira CMF; Lordsleem ABMDS; Lima SG; Markman Filho B; Oliveira DC
    Arq Bras Cardiol; 2019 Jul; 113(1):77-84. PubMed ID: 31291414
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients.
    Rosa Neto NS; Bento JCB; Pereira RMR
    Adv Rheumatol; 2020 Jan; 60(1):7. PubMed ID: 31907047
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.
    Ferreira S; Ortiz A; Germain DP; Viana-Baptista M; Caldeira-Gomes A; Camprecios M; Fenollar-Cortés M; Gallegos-Villalobos Á; Garcia D; García-Robles JA; Egido J; Gutiérrez-Rivas E; Herrero JA; Mas S; Oancea R; Péres P; Salazar-Martín LM; Solera-Garcia J; Alves H; Garman SC; Oliveira JP
    Mol Genet Metab; 2015 Feb; 114(2):248-58. PubMed ID: 25468652
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
    Duro G; Zizzo C; Cammarata G; Burlina A; Burlina A; Polo G; Scalia S; Oliveri R; Sciarrino S; Francofonte D; Alessandro R; Pisani A; Palladino G; Napoletano R; Tenuta M; Masarone D; Limongelli G; Riccio E; Frustaci A; Chimenti C; Ferri C; Pieruzzi F; Pieroni M; Spada M; Castana C; Caserta M; Monte I; Rodolico MS; Feriozzi S; Battaglia Y; Amico L; Losi MA; Autore C; Lombardi M; Zoccali C; Testa A; Postorino M; Mignani R; Zachara E; Giordano A; Colomba P
    Int J Mol Sci; 2018 Nov; 19(12):. PubMed ID: 30477121
    [TBL] [Abstract][Full Text] [Related]  

  • 11. An intronic haplotype in α galactosidase A is associated with reduced mRNA expression in males with cryptogenic stroke.
    Zeevi DA; Hakam-Spector E; Herskovitz Y; Beeri R; Elstein D; Altarescu G
    Gene; 2014 Oct; 549(2):275-9. PubMed ID: 25101867
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.
    Ferri L; Malesci D; Fioravanti A; Bagordo G; Filippini A; Ficcadenti A; Manna R; Antuzzi D; Verrecchia E; Donati I; Mignani R; Cavicchi C; Guerrini R; Morrone A
    Clin Chim Acta; 2018 Jun; 481():25-33. PubMed ID: 29476735
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan.
    Liao HC; Hsu TR; Young L; Chiang CC; Huang CK; Liu HC; Niu DM; Chen YJ
    Mol Genet Metab; 2018 Feb; 123(2):140-147. PubMed ID: 28615118
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report.
    Pisani A; Imbriaco M; Zizzo C; Albeggiani G; Colomba P; Alessandro R; Iemolo F; Duro G
    BMC Cardiovasc Disord; 2012 Jun; 12():39. PubMed ID: 22682330
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry.
    Romani I; Sarti C; Nencini P; Pracucci G; Zedde M; Cianci V; Nucera A; Moller J; Orsucci D; Toni D; Palumbo P; Casella C; Pinto V; Barbarini L; Bella R; Scoditti U; Ragno M; Mezzapesa DM; Tassi R; Volpi G; Diomedi M; Bigliardi G; Cavallini AM; Chiti A; Ricci S; Cecconi E; Linoli G; Sacco S; Rasura M; Giordano A; Bonetti B; Melis M; Cariddi LP; Dossi RC; Grisendi I; Aguglia U; Di Ruzza MR; Melis M; Sbardella E; Vista M; Valenti R; Musolino RF; Passarella B; Direnzo V; Pennisi G; Genovese A; Di Marzio F; Sgobio R; Acampa M; Nannucci S; Dagostino F; Dell'Acqua ML; Cuzzoni MG; Picchioni A; Calchetti B; Notturno F; Di Lisi F; Forlivesi S; Delodovici ML; Buechner SC; Biagini S; Accavone D; Manna R; Morrone A; Inzitari D
    J Neurol Sci; 2024 Feb; 457():122905. PubMed ID: 38295534
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males.
    Oliveira JP; Nowak A; Barbey F; Torres M; Nunes JP; Teixeira-E-Costa F; Carvalho F; Sampaio S; Tavares I; Pereira O; Soares AL; Carmona C; Cardoso MT; Jurca-Simina IE; Spada M; Ferreira S; Germain DP
    Eur J Med Genet; 2020 Feb; 63(2):103703. PubMed ID: 31200018
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing.
    Delarosa-Rodríguez R; Santotoribio JD; Paula HA; González-Meneses A; García-Morillo S; Jiménez-Arriscado P; Guerrero JM; Macher HC
    Clin Genet; 2021 Jun; 99(6):761-771. PubMed ID: 33527381
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy.
    Terryn W; Deschoenmakere G; De Keyser J; Meersseman W; Van Biesen W; Wuyts B; Hemelsoet D; Pascale H; De Backer J; De Paepe A; Poppe B; Vanholder R
    Int J Cardiol; 2013 Sep; 167(6):2555-60. PubMed ID: 22805550
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Fabry Disease Screening in Patients With Kidney Transplant: A Single-Center Study in Turkey.
    Erdogmus S; Kutlay S; Kumru G; Ors Sendogan D; Erturk S; Keven K; Ceylaner G; Sengul S
    Exp Clin Transplant; 2020 Aug; 18(4):444-449. PubMed ID: 32281532
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients.
    Duro G; Anania M; Zizzo C; Francofonte D; Giacalone I; D'Errico A; Marsana EM; Colomba P
    Int J Mol Sci; 2024 May; 25(10):. PubMed ID: 38791200
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.